Our Story

Amélie Durão Lewi was born on the 2nd of November 2009. After an uneventful and quite easy pregnancy, Amélie made us wait for another ten days after her due date, but arrived safely and screaming healthily at 10.17pm.

We were quite relaxed since the first moment, our baby was healthy, feeding well and good natured.

We took Amélie travelling at 6 weeks to visit her grandparents, uncles and aunts and cousins in Portugal. Like her mum, Amélie is an excellent plane traveller, she just sleeps!

We attended lots of activities while Amélie was a baby – baby sensory, music, baby massage, swimming and she was always happy, attentive and going at the pace of her little friends, many of them slightly older than her.

The First Signs

We noticed from the beginning that Amélie did not like sudden loud voices, and seemed to be more inclined to certain people than others. But overall she was happy, determined, energetic and reached all her milestones quite ahead of time.

By February 2011, at 15 months, we started noticing that while walking with her walker Amélie turned her left foot slightly in and we started to get concerned that she had a slight problem with her foot that might have been stopping her from walking independently. This coupled with the fact that she was always an incredibly measured child in the sense that she always descended from standing into sitting really carefully, she learnt how to turn her bottom out and descend slowly from the sofa, never once did she really bash herself badly as it usually happens at this age. So we went to ask for advice from the GP who at the time was not very concerned either and had referred her to a specialist… sadly events turned quite quickly after this…

In March 2011, Amélie caught quite a bad cold and cough and while she was ill we noticed that she was very lethargic, she stopped standing up or cruising, stopped babbling and hardly crawled. For the first few days we put it down to her simply being sick, I had been sick a few weeks earlier and could hardly get out of bed, but we got concerned when we picked her up to stand that she was unable to sustain any weight on her legs and started crying when she tried. Still thinking that the worst would be diabetes, as this is a sign on little ones and there is a case in the family, we booked an appointment to see the GP the next day.

The Diagnosis

Since then events unfolded so quickly that we are still going through them in our minds. The GP got really worried once we told him that Amélie was simply not behaving like our child and out of tiredness she was bending herself backwards in our laps (what looked like vacant moments), we were then sent straight to Lewisham A&E with a letter from the GP stating his concerns and once testing was done at Lewisham to rule out other conditions, we were transfered to Evelina Childrens Hospital (part of Guys and St Thomas’s Trust).

As she started to get better from her cold on the first few nights and started to crawl a bit more and trying to pull to stand on the hospital cot we thought at some stage that maybe we had blown it out of proportion and that it would be something quite simple. I wish we had been right… by the 3rd night, after the ophthalmologic test Amélie was found to have cherry-red spot, the indication to metabolic conditions. We were not in any way prepared for this diagnosis, we had no idea what metabolic conditions were, and we were certainly not aware to be carriers of any genes that together could be so terrible to our child.

So we came home knowing that our daughter had a terrible disease, one between many of the lysosomal storage diseases, and we kept on saying to ourselves that it would be ok, that it would be the mildest one possible, but we also kept on reading on the internet about all of them. I knew Amélie did not fit Tay-Sachs description in terms of the Classic Infantile form as she had hit all the milestones up to the moment she had a regression, and she was too young to suffer from Juvenile onset, however the description of startles to loud noises clicked with me, our daughter startles badly to loud noises and this did not leave my mind until the diagnosis day.

We were told Amélie suffered from Tay-Sachs two weeks after we had first taken her to hospital, hers was not a Classic Infantile neither the Juvenile Onset form, she is somewhere in between so her doctors are not fully sure of how quick or slow her regression will be, and how long she has to live. And this is the question that no parent should ever have to ask, but we had to…

Life now

Since then we have gone through the worst days of our lives, nothing can prepare you for a diagnosis like this and only those in the same position truly understand.

We wake up everyday and praise our baby for still being able to do the things she did the day before, we know that other parents are teaching their children new words, how to go up and down stairs, and the colours… we wish we could do that too. For us is just enough if she does not get any worse.

Amélie cannot stand or cruise any more and finds it increasingly straining to crawl and only does so very slowly and with a lot of effort, she lost the words she used to say but babbles a lot, smiles a lot and laughs a lot. She loves to be taken on walks, to be cuddled, to play with books and to watch CBeebies. Overall she is happy and this is what keeps us going.

We know the road ahead of us is too awful and we try not to look too ahead. We are enjoying our child the most we can and love her more than could ever be put into words but most importantly we make sure that she is enjoying herself and living life the best she can, with a lot of love, support and fun!

We hope that one day we can write an update that all has been changed, that Amélie and all the children in the world suffering the same and similar conditions can be cured and that Tay-Sachs and Lysosomal Storage Diseases become a serious diagnosis that can be treated.

13 Comments

i saw you both and lovely amilie at donna and colins wedding. from donna the news was the worst that parents could get.my heart and love go to all three of you. i hope that your wedding is a lovely day. keepng positive is the best and hardest thing to do, but i know you will do your best. xx

It´s truly amazing this way of showing and sharing your stories, your daily life with everyone. I’m very thankfull, first of all, to be able to see Amélie and how beutifull she looks, and also to have the oportunity to be a part of this project and help you with everything I can.

Face a difficult situation like this and publish your story is a act of enormous courage and love.
In the presence of this, all my words will seem very small compared to the message you send were, through your words.
Lot of kisses.
–
Joana.

Your daughter is absolutely beautiful! I know too well the devastation of Tay Sach because I had a little boy (Jordy) that passed away in 1992 from the disease. My thoughts are with you. Your website is awesome. Thank you for your inspiration.

Dear Gail, thank you for your post and kind words. I am so sorry to hear that you have lost your little boy to Tay-Sachs and my heart and thoughts go to you. Thank you for your support and all my best wishes to you and your family.

Hello, my daughter has Sandhoff disease, very similar to Tay -Sachs as you have already know I think.I am so sorry to hear that another child has one of this diseases, but you are not alone. Hugs to all of you:)

Amelie is very beautiful. I fully understand what you are going through, we lost our twin daughters last year to Tay Sachs. If you ever want to chat, please contact me, i’d be happy to offer any help and support that you need. Keep strong and keep fighting Amelie xxxxx

What an amazing woman you are to share your story with others. I had no idea this disease even existed, and after reading your story I pray the doctors find a cure for your gorgeous little Amelie and other children. May your family enjoy many more days not about Tay-sachs and may Amelie be a little fighter just like her mother.